See a list of Tyler Pierson, MD, PhD latest publications.

Selected Publications

Pizzino A, Pierson TM, Guo Y, et al. TUBB4A de novo mutations cause isolated hypomyelination. Neurology. 2014 Sep 2;83(10):898-902.

Zhu P-P, Denton KR, Pierson TM, et al. Pharmacologic rescue of axon growth defects in a human iPSC model of hereditary spastic paraplegia SPG3A. Hum Mol Genet. 2014 Jun 6. pii: ddu280

Renvoisé B, Chang J, Singh R, Yonekawa S, FitzGibbon EJ, Schindler A, Toro C, Gahl WA, Mahuran D, Blackstone C, Pierson TM. Lysosomal abnormalities in hereditary spastic paraplegia types SPG15 and SPG11. Ann Clin Transl Neurol. 2014 Jun 1;1(6):379-389.

Yuan H, Hansen KB, Zhang J, Pierson TM, et al. Functional analysis of a de novo GRIN2A missense mutation associated with early-onset epileptic encephalopathy. Nat Commun. 2014;5:3251.

Pierson TM, Yuan H, Marsh ED, et al. GRIN2A mutation and early-onset epileptic encephalopathy: personalized therapy with memantine. Ann Clin and Transl Neurol. 2014 Mar 1;1(3):190-198.

Totonchy MB, Tamura D, Pantell MS, Zalewski C, Bradford PT, Merchant SN, Nadol J, Khan SG, Schiffmann R, Pierson TM, et al. Auditory analysis of xeroderma pigmentosum 1971-2012: hearing function, sun sensitivity and DNA repair predict neurological degeneration. Brain. 2013 Jan;136(Pt 1):194-208.

Pierson TM, Torres PA, Zeng BJ, et al. Juvenile-onset motor neuron disease caused by novel mutations in β-hexosaminidase. Mol Genet Metab. 2013 Jan;108(1):65-69.

Pierson TM, Adams DR, Markello TC, et al. Exome sequencing as a diagnostic tool in a case of undiagnosed juvenile-onset GM1-gangliosidosis. Neurology. 2012 Jul 10;79(2):123-126.

Pierson TM, Simeonov DR, Adams DA, et al. Exome sequencing and SNP analysis detect novel compound heterozygosity in fatty acid hydroxylase-associated neurodegeneration. Eur J Hum Genet. 2012 Apr;20(4):476-479.

Gahl WA, Markello TC, Toro C, Fuentes-Fajardo K, Sincan M, Gill F, Carlson-Donohoe H, Pierson TM, et al. The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases. Genet Med. 2012 Jan;14(1):51-59.

Pierson TM, Adams D, Bonn F, et al. Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases. PLoS Genet. 2011 Oct;7(10).

Pierson TM, Tart G, Adams D, et al. Infantile-onset spinal muscular atrophy with respiratory distress-1 diagnosed in a 20-year-old man. Neuromuscul Disord. 2011 May;21(5):353-355.

Cable C, Finkel RS, Lehky T, Biassou N, Wiggs EA, Bunin N, Pierson TM. Unrelated umbilical cord blood transplant for juvenile metachromatic leukodystrophy: a five-year follow-up in three affected siblings. Mol Genet Metab. 2011 Feb;102(2):207-209.

Pierson TM, Bonnemann CG, Finkel RS, et al. Umbilical cord blood transplantation for juvenile metachromatic leukodystrophy. Ann Neurol. 2008 Nov;64(5):583-587.

Pierson TM, Wang Y, DeMayo FJ, et al. Regulable expression of inhibin A in wild-type and inhibin alpha null mice. Mol Endocrinol. 2000 Jul;14(7):1075-1085.

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